NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann ‐Pick type C patient

ConclusionWe showed that theNPC1 silent polymorphism (p.V562V) is a disease ‐causing variant in NPC and that the UPR is upregulated in an NPC patient.

Source: Molecular Genetics & Genomic Medicine - September 14, 2020 Category: Genetics & Stem Cells Authors: Marisa Encarna ção, Maria Francisca Coutinho, Soo Min Cho, Maria Teresa Cardoso, Isaura Ribeiro, Paulo Chaves, Juliana Inês Santos, Dulce Quelhas, Lúcia Lacerda, Elisa Leão Teles, Anthony H. Futerman, Laura Vilarinho, Sandra Alves Tags: ORIGINAL ARTICLE Source Type: research